ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2315C>T (p.Thr772Ile) (rs1064794522)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580617 SCV000683477 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-03 criteria provided, single submitter clinical testing
GeneDx RCV000479708 SCV000569363 uncertain significance not provided 2017-01-17 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.2315C>T at the cDNA level, p.Thr772Ile (T772I) at the protein level, and results in the change of a Threonine to an Isoleucine (ACT>ATT). Using alternate nomenclature, this variant would be defined as BRCA2 2543C>T. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Thr772Ile was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Threonine and Isoleucine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Thr772Ile occurs at a position that is not conserved and is not located in a known functional domain. In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether BRCA2 Thr772Ile is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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